{"orpha":324313,"name":"9p13 microdeletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Del(9)(p13)","Monosomy 9p13"],"definition":"9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterized by mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (e.g., bilateral epicantic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-324313/","orphanet_url":"https://www.orpha.net/en/disease/detail/324313","names":{"fr":{"name":"Syndrome de microdélétion 9p13","synonyms":["Del(9)(p13)","Monosomie 9p13"],"definition":"Un syndrome rare d'anomalie chromosomique causé par la délétion interstitielle partielle du bras court du chromosome 9. Il se caractérise par un retard de développement léger à modéré, un tremblement des mains, des secousses myocloniques, un trouble du déficit de l'attention/hyperactivité et une personnalité sociable. Les patients présentent aussi un bruxisme, une petite taille et une dysmorphie faciale mineure (incluant des plis épicanthiques bilatéraux, un pont nasal plat et large, des narines antéversées, des oreilles implantées basses et une micro/rétrognathie)."},"de":{"name":"Mikrodeletionssyndrom 9p13","synonyms":["Del(9)(p13)","Monosomie 9p13"],"definition":"Das Mikrodeletionssyndrom 9p13 ist eine seltene Chromosomenanomalie, die aus einer partiellen interstitiellen Deletion des kurzen Arms von Chromosom 9 resultiert und durch eine leichte bis mäßige Entwicklungsverzögerung, Handzittern, Myoklonien, Aufmerksamkeitsdefizit-Hyperaktivitätsstörung und eine soziale Persönlichkeit gekennzeichnet ist. Die Patienten zeigen außerdem Bruxismus, Kleinwuchs und leichte Gesichtsdysmorphien (z. B. bilaterale epikantische Falten, breiter, flacher Nasenrücken, antevertierte Nasenlöcher, tief angesetzte Ohren, Mikro/Retrognathie)."},"es":{"name":"Síndrome de microdeleción 9p13","synonyms":["Del(9)(p13)","Monosomía 9p13"],"definition":"El síndrome de microdeleción 9p13 es un síndrome de anomalías cromosómicas poco frecuente, que resulta de una deleción parcial intersticial del brazo corto del cromosoma 9. Está caracterizado por retraso del desarrollo de leve a moderado, temblores en las manos, sacudidas mioclónicas, trastorno por déficit de atención e hiperactividad y personalidad social. Los afectados también presentan bruxismo, talla baja y rasgos faciales dismórficos leves (p. ej., pliegues epicánticos bilaterales, puente nasal ancho y plano, narinas antevertidas, orejas de baja implantación o micro/retrognatia)."},"it":{"name":"Sindrome da microdelezione 9p13","synonyms":["Del(9)(p13)","Monosomia 9p13"],"definition":"La sindrome da microdelezione 9p13 è un'anomalia cromosomica rara, causata dalla delezione interstiziale parziale del braccio corto del cromosoma 9. È caratterizzata da ritardo dello sviluppo lieve o moderato, tremori delle mani, scosse miocloniche, deficit di attenzione-iperattività e personalità socievole. I pazienti presentano inoltre bruxismo, bassa statura e dismorfismi facciali sfumati (epicanto bilaterale, sella nasale ampia e appiattita, narici anteverse, orecchie a basso impianto e micro/retrognazia)."},"nl":{"name":"9p13-microdeletiesyndroom","synonyms":["Del(9)(p13)","Monosomie 9p13"],"definition":"9p13 microdeletiesyndroom is een zeldzaam syndroom met een chromosomale anomalie als gevolg van een partiële interstitiële deletie van de korte arm van chromosoom 9, en wordt gekarakteriseerd door milde tot matige ontwikkelingsachterstand, tremor van de handen, myoclonische schokbewegingen, aandachtsstoornis met hyperactiviteit en een sociale persoonlijkheid. Patiënten vertonen ook bruxisme (tandenknarsen), kleine gestalte en geringe faciale dysmorfe kenmerken (e.g., bilaterale epicanthusplooien, brede en platte neusbrug, opengesperde neusgaten, laagstaande oren, en micro-/retrognathie)."},"pt":{"name":"Síndrome de microdeleção 9p13"},"pl":{"name":"Zespół mikrodelecji 9p13","synonyms":["Del(9)(p13)","Monosomia 9p13"]},"cs":{"name":"Mikrodeleční syndrom 9p13","synonyms":["Del(9)(p13)","Monozomie 9p13"]},"uk":{"name":"Синдром мікроделеції 9p13","synonyms":["Del(9)(p13)","Моносомія 9p13"],"definition":"9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterized by mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (e.g., bilateral epicantic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia)."},"zh":{"name":"9p13微缺失综合征","synonyms":["9p13单体"],"definition":"9p13微缺失综合征是一种罕见的染色体异常综合征，由9号染色体短臂的部分间质性缺失引起，其特征为轻度至中度发育迟缓、手颤、肌阵挛性抽搐、注意缺陷多动障碍和社会性人格。患者还表现出磨牙症、身材矮小和轻微的面部畸形特征(例如，双侧上眼睑皱襞、鼻梁宽而平、鼻孔前倾、低位耳、小颌/缩颌畸形)。"},"tr":{"name":"9p13 mikrodelesyon sendromu","synonyms":["Del(9)(p13)","Monozomi 9p13"]}},"xrefs":[{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017928","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707097","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":261929,"name":"Partial deletion of the short arm of chromosome 9 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"22887577[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-04-24","source":"22887577[PMID]","terms":[{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003763","label":"Bruxism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000308","label":"Microretrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011342","label":"Mild global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:3000022","label":"Abnormality of cartilage of external ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000565","label":"Esotropia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002378","label":"Hand tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010489","label":"Absent palmar crease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000957","label":"Cafe-au-lait spot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003241","label":"External genital hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001795","label":"Hyperconvex nail","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000540","label":"Hypermetropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001800","label":"Hypoplastic toenails","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011330","label":"Metopic synostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000826","label":"Precocious puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000403","label":"Recurrent otitis media","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Occasional (29-5%)","criteria":null}]}}